Canonical Allele Identifier: CA1047675848

Gene: COL7A1

Linked Data

• dbSNP Id: rs1575418382
• gnomAD v3: 3-48567386-T-C
• gnomAD v4: 3-48567386-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567386T>C , CM000665.2:g.48567386T>C	GRCh38
NC_000003.11:g.48604819T>C , CM000665.1:g.48604819T>C	GRCh37
NC_000003.10:g.48579823T>C	NCBI36
NG_007065.1:g.32867A>G , LRG_286:g.32867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8046+188A>G MANE Select	ENSP00000506558.1:n.8046+188A>G
ENST00000328333.12:c.8046+188A>G	ENSP00000332371.8:n.8046+188A>G
ENST00000487017.5:n.4685+188A>G
NM_000094.3:c.8046+188A>G , LRG_286t1:c.8046+188A>G	NP_000085.1:n.8046+188A>G
XM_011533336.1:c.8073+188A>G	XP_011531638.1:n.8073+188A>G
XM_011533337.1:c.8046+188A>G	XP_011531639.1:n.8046+188A>G
XM_011533338.1:c.8013+188A>G	XP_011531640.1:n.8013+188A>G
XR_940369.1:n.8109+188A>G
XR_940370.1:n.8109+188A>G
XR_940371.1:n.8109+188A>G
XM_017005688.1:c.7986+188A>G	XP_016861177.1:n.7986+188A>G
XR_001740003.1:n.8082+188A>G
XR_001740004.1:n.8082+188A>G
XR_001740005.1:n.8082+188A>G
NM_000094.4:c.8046+188A>G MANE Select	NP_000085.1:n.8046+188A>G